DisGeNET - a database of gene-disease associations

Gene: LRSAM1 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	90678
Gene Symbol:	LRSAM1

LRSAM1

CUI:	C1408174
Disease:	Hypertrophic neuropathy of infancy

Hypertrophic neuropathy of infancy

0.200

Biomarker

MGD

Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease.

2013